Prevalence of congenital muscular dystrophy in Italy: a population study

scientific article

Prevalence of congenital muscular dystrophy in Italy: a population study is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1212/WNL.0000000000001303
P3181OpenCitations bibliographic resource ID3805327
P932PMC publication ID4351663
P698PubMed publication ID25653289

P50authorIsabella MoroniQ80073353
Maurizio MoggioQ80073417
Tiziana MonginiQ80074802
Isabella MoroniQ98569170
Francesco MuntoniQ29645259
Eugenio MercuriQ30089987
Adele D'AmicoQ30112571
Angela BerardinelliQ30169405
Francesca MagriQ30169417
Enrico BertiniQ30429884
Giacomo P ComiQ38544677
Sonia MessinaQ43163114
Marina MoraQ47504621
Giorgio TascaQ51231553
Enzo RicciQ56761057
Roberta BattiniQ56839319
Mauro MonforteQ57091804
Filippo Maria SantorelliQ60541206
P2093author name stringAlessandra Ferlini
Francesca Gualandi
Alessandra Graziano
Carlo Minetti
Luisa Politano
Marcello Villanova
Marika Pane
Roberta Petillo
Claudio Bruno
Elena Pegoraro
Lucia Morandi
Antonella Pini
Guja Astrea
Ksenija Gorni
Flaviana Bianco
P2860cites workMutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathiesQ24617292
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population studyQ28238656
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycanQ28249364
Neuromuscular disorders in childhood: a descriptive epidemiological study from western SwedenQ73455541
Skin changes in Ullrich congenital muscular dystrophyQ79695330
Diagnosis and etiology of congenital muscular dystrophyQ80412916
Diagnostic approach to the congenital muscular dystrophiesQ30767612
Brain involvement in muscular dystrophies with defective dystroglycan glycosylationQ33391488
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic populationQ33685609
Natural history of pulmonary function in collagen VI-related myopathiesQ37383472
Dystroglycanopathies: coming into focusQ37852376
SEPN1-related myopathies: clinical course in a large cohort of patientsQ37889025
Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008.Q38000356
The ever-expanding spectrum of congenital muscular dystrophiesQ38029277
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.Q41924242
Congenital muscular dystrophies with cognitive impairment. A population study.Q44505558
Congenital muscular dystrophy with merosin deficiencyQ59281293
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spineQ61415100
Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutationsQ61794269
Genetic epidemiology of congenital muscular dystrophy in a sample from north-east ItalyQ71482663
Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletalQ71791406
22nd ENMC sponsored workshop on congenital muscular dystrophy held in Baarn, The Netherlands, 14-16 May 1993Q72398226
Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic studyQ73425502
P433issue9
P407language of work or nameEnglishQ1860
P921main subjectItalyQ38
congenital disorderQ727096
congenital muscular dystrophyQ1321884
P304page(s)904-11
P577publication date2015-03-03
P1433published inNeurologyQ1161692
P1476titlePrevalence of congenital muscular dystrophy in Italy: a population study
P478volume84

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cites work (P2860)
Q88457883A Qualitative Approach to Health Related Quality-of-Life in Congenital Muscular Dystrophy
Q58695079Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study
Q46953467Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care.
Q64065905Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report
Q33844672Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.
Q27023097Congenital muscular dystrophy: from muscle to brain
Q91906240Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy
Q33787898Improving Reproducibility of Phenotypic Assessments in the DyW Mouse Model of Laminin-α2 Related Congenital Muscular Dystrophy
Q54945496Lamins and bone disorders: current understanding and perspectives.
Q91594164Muscular dystrophies
Q41820882The evolution of the dystroglycan complex, a major mediator of muscle integrity
Q60300741The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy

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